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NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln) AND Dilated cardiomyopathy 1NN

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 19, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001253127.1

Allele description [Variation Report for NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)]

NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)

Gene:
RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)
Other names:
p.R627Q:CGG>CAG
HGVS:
  • NC_000003.12:g.12584581C>T
  • NG_007467.1:g.84599G>A
  • NM_001354689.3:c.1940G>A
  • NM_001354690.3:c.1880G>A
  • NM_001354691.3:c.1637G>A
  • NM_001354692.3:c.1637G>A
  • NM_001354693.3:c.1781G>A
  • NM_001354694.3:c.1697G>A
  • NM_001354695.3:c.1538G>A
  • NM_002880.4:c.1880G>AMANE SELECT
  • NP_001341618.1:p.Arg647Gln
  • NP_001341619.1:p.Arg627Gln
  • NP_001341620.1:p.Arg546Gln
  • NP_001341621.1:p.Arg546Gln
  • NP_001341622.1:p.Arg594Gln
  • NP_001341623.1:p.Arg566Gln
  • NP_001341624.1:p.Arg513Gln
  • NP_002871.1:p.Arg627Gln
  • NP_002871.1:p.Arg627Gln
  • LRG_413t1:c.1880G>A
  • LRG_413t2:c.1940G>A
  • LRG_413:g.84599G>A
  • LRG_413p1:p.Arg627Gln
  • LRG_413p2:p.Arg647Gln
  • NC_000003.11:g.12626080C>T
  • NM_002880.3:c.1880G>A
  • NR_148940.3:n.2324G>A
  • NR_148941.3:n.2270G>A
  • NR_148942.3:n.2209G>A
Protein change:
R513Q
Links:
dbSNP: rs730881006
NCBI 1000 Genomes Browser:
rs730881006
Molecular consequence:
  • NM_001354689.3:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.1880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.1637G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.1637G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.1781G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.1697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.1538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.1880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.2324G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.2270G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.2209G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1NN
Identifiers:
MONDO: MONDO:0014396; MedGen: C4014656; Orphanet: 154; OMIM: 615916

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001428671Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 19, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428671.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024